Doctor suggested Mastocytosis. Anyone?

Hi. I went to a neurologist who is very reputated and runs a sleep disorders clinic. I showed my old sleep study and he was very interested. He started to find many abnormalities that they hadn't noticed at the public hospital where I took the sleep study.

Anyway, the guy got like very interested and started asking lots of questions about my whole condition. He didn't know much about CFS but still said, let's see, you never know, you have terrible symptoms and signs and tests showing many things wrong.

Anyway... he got to a point where he said that I might have MASTOCYTOSIS. He told me to go to some skin & mastocytosis specialist first and then we'd see step by step.

So, I came home and googled for Mastocytosis. And in fact it the symptoms match too in many ways, sounds like CFS and the hypersensitivity I have to everything which is not full MCS, mostly my untreatable respiratory tract mess and so on.

So, given that apparently having Mast Cell disease is also (as usual) common in CFS, and given that the tests for Mastocytosis are terrible (biopsies), I'd like to ask if someone has gone this route before and got tested and so on.

Hi.. I have an uncle with systemic Mastocytosis.. its very very rare. (1 in every 150,000?) . There has been a few families in which in has run in family (so obviously some kind of genetic link)

Its a truely terrible thing to have as it can often be fatal, (my uncle goes into anaphaltic shock and needs resusitation a lot)... Interestingly, his daughter (my cousin) has been on disablity since a teen due to having the same symptoms as me. Her doctors dont believe in CFS.. so her illness is unknown, she thinks she has what her father has (all her tests are negative) but i think she has what i have ME (canadian consensus CFS). My uncle kept thinking i had Mastocytosis too and probably still does.

Cause of my family history, Ive been tested for Systemic Mastocytosis and the test which was done on me the immunologist told me it was a new blood test and reliable (i thou dont know whether to believe that or not). My uncle used to tell me the blood test often didnt show it up and that a biopsies were needed... and that if the right place wasnt biopsied in the right organ its in or in the right area of the bone marrow, it can be missed (it can be anywhere in the body, all different organs but usually somewhere in the bone marrow). (My uncle used to spend all his time online reseaching this illness.. as he's cut off from the rest of the world due to it, due to the severe life threatening allergies it gives him). Just someone having peppermint breath about him almost killed him!!.

I personally wouldnt be suprised if one day I did develolp that .. as i have had dermatographism (which is excess mast cells in the skin) .. and also twice over the years developed a rash on my arm interestingly in same place, which blistered on touch (doctor put that down to some kind of viral rash). I really wish I'd know about Systemic mastocytosis then and got that biopsied (as if one gets a Mastocycotisis rash.. they can be biopsied for it.. but rashes dont always appear in systemic mastocytosis).

From what i know about this illness, it is very unlikely you have it .. have you got Mastocytosis rash?? as well as the other symptoms you have?? (one can say more likely that you could have it if you have the rash). The specialist if he didnt know much about CFS (canadian consensus defination) .. could easily think instead you could have mastocytosis (seeing the symptoms are VERY ALIKE). Mastocytosis is an very undiagnosed illness as most doctors have never even heard of it and most would never have had a Mastocytosis esp Systemic kind of patient. So im sure there are ones with CFS out there who actually do have this serious disease.
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Anyone here.. if you do have a strange rash of spots or a strange patch on your body.. please reseach Mastocytosis. Matocytosis causes serious allergy reactions.

Hi I actually asked my specialist if he thought I could have this but he siad not - I think on the grounds that didn't know much about it and that he thinks the autonomic problems account for everything being dysregulated. Do you have particularly bad skin rashed/manifestations? I know I react to my own histamine and make it in response to most things. But i am sorry I cannot help you further.

Hi.. I have an uncle with systemic Mastocytosis.. its very very rare. (1 in every 150,000?) . There has been a few families in which in has run in family (so obviously some kind of genetic link)

Anyone here.. if you do have a strange rash of spots on your body.. please reseach Mastocytosis

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Thank -you for this post I found it really helpful - I just learned more from you than my hospital specialist. Are the spots a particular type? Are reactions always anaphaltic? This must be awful for your uncle - I have severe mcs and can get severe reactions from very small exposures but this something else I understand how isolating things are for me so it must be very hard for him as the consequences are so extreme. Thank you again that was a really great post.

Hi. I went to a neurologist who is very reputated and runs a sleep disorders clinic. I showed my old sleep study and he was very interested. He started to find many abnormalities that they hadn't noticed at the public hospital where I took the sleep study.

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Common CFS/ME sleep study abnormalities are.. shorted time in deeper stages of sleep .. also alpha wave intrusin into delta waves within non-REM sleep (from the canadian consensus doc).

Thank -you for this post I found it really helpful - I just learned more from you than my hospital specialist. Are the spots a particular type? Are reactions always anaphaltic? This must be awful for your uncle - I have severe mcs and can get severe reactions from very small exposures but this something else I understand how isolating things are for me so it must be very hard for him as the consequences are so extreme. Thank you again that was a really great post.

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No not always anaphalatic, it depends on how bad the attack was and some may not be as extreme to go into anaphalatic shock.. last time i saw him he was shaky, weak, exhausted and at times having trouble breathing (and probably had other symptoms which couldnt be seen due to the illness. Another reason why a CFS and mastocytosis may be confused is cause all kinds of things can trigger off an mastocytosis attack INCLUDING EXERCISE (it depends on the individual). Mastocytosis suffers also suffer from exhaustion due to their body attacking itself. (my uncles case is ongoing.. i dont think he's truely ever well, his mast cells are always at a high level even with meds.
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here i just found something online which is better explaination to what ive tried to give on adult Mastocytosis

Mast cells produced in the bone marrow travel through the body in the blood, and can invade many of the organs. Typically the first organ to be involved is the skin. Mast cells cluster in the skin and form spots, giving rise to a condition called Urticaria Pigmentosa. In some people these cells cause skin irritation but, Mastocytosis being the condition it is, not all those affected suffer with skin irritation. Mast cells can also invade the lining of the gut. Irritation of these cells by certain triggers in foods gives rise to gut pain, diarrhoea and vomiting. At this stage the disease can be described as systemic. Other organs which can be involved are the liver, spleen, lungs, bones and kidneys.

Im feeling quite good tonight so I thought i'd look for some pictures of this disorder to put up here, it can look quite different in different cases... but any rash when tested which gets what they call "darier sign" by stroking is suspect of this disorder (thou not all with darier sign have this)

"Table 11.7 SYMPTOMS AND ORGAN-SPECIFIC FEATURES THAT MAY OCCUR IN MASTOCYTOSIS

Organ system Symptom or feature Comments

Skin Itch (mediated by prostaglandin D2),wheals (leukotrienes), flushing (chymase), blisters (histamine) Wheals in localized disease (mastocytoma, limited urticaria pigmentosa) are at the site of lesions, but they may occur elsewhere in more extensive disease.Blisters are most commonly a feature of extensive mastocytosis in infants and young children, improving with time.

My son has a mastocytoma on his leg. It toold like a small flat pale mole, but it you scratch it a bit with your nail it grows into a massive welt, one inch diameter with a raised white dome in the center. After a couple hours it is back down to barely noticeable.

Concerning mastocytosis, it is also suspected to play a role in autism. Below is a link to a video you MUST WATCH if you are interested in neurological consequences of mastocytosis.

One option, if mastocytosis is suspected, would be to try mast cell blockers. The video above explains which substances act this way. For example, Quercetin, Ruteolin, and some medications not available in the US like Ketotifen (available from Canada through some compounding pharmacies).

The problem with antihistamine drugs available in the US is that they do just that: block histamines. Mast cells release a ton of different substances, not just histamines, and some of these other substances are more damaging neurologically. This is not widely known by mainstream doctors. Also, as explained in the video above, mast cell activity might also contribute to leaky BBB and leaky gut.

-->>Mast cells are located in connective tissue, including the skin, the linings of the stomach and intestine, and other sites. They play an important role in helping defend these tissues from disease. Now, how does Connective Tissue disorders (common to CFIDS and FM) and POTS (common to Connective Tissue Disorders) play into this? Very interesting. Now I wonder if this is part of CFIDS for a sub-group. Also wonder if this really is an "orphan disease". Interesting. Wish my brain worked...

Mastocytosis is a group of rare disorders of both children and adults caused by the presence of too many mast cells (mastocytes) and CD34+ mast cell precursors in a person's body.[1]

[edit] PathophysiologyMast cells are located in connective tissue, including the skin, the linings of the stomach and intestine, and other sites. They play an important role in helping defend these tissues from disease. By releasing chemical "alarms" such as histamine, mast cells attract other key players of the immune defense system to areas of the body where they are needed.

Mast cells seem to have other roles as well. Because they gather together around wounds, mast cells may play a part in wound healing. For example, the typical itching felt around a healing scab may be caused by histamine released by mast cells. Researchers also think mast cells may have a role in the growth of blood vessels (angiogenesis). No one with too few or no mast cells has been found, which indicates to some scientists that we may not be able to survive with too few mast cells.

Mast cells express a cell surface receptor termed c-kit[2] (CD117), which is the receptor for scf (stem cell factor). In laboratory studies, scf appears to be important for the proliferation of mast cells. Mutations of the c-kit receptor leading to uncontrolled stimulation of the receptor is a cause for the disease. Inhibiting the tyrosine kinase receptor with imatinib (see below) may reduce the symptoms of mastocytosis.

[edit] Classification
Mastocytosis can occur in a variety of forms.

Most cases are cutaneous (confined to the skin only). There are several forms of cutaneous mastocytosis. The most common is called urticaria pigmentosa (UP). It is most common in children. Telangiectasia Macularis Eruptiva Perstans (TMEP) is a much rarer form of cutaneous mastocytosis that affects adults.[3]
Systemic mastocytosis involves the internal organs, usually in addition to involving the skin. Mast cells collect in various tissues and can affect organs such as the liver, spleen, lymph nodes, and bone marrow.
Other types of mast cell disease include: Mast cell leukemia
Mast cell sarcoma[edit] History
Scientists first described urticaria pigmentosa in 1869.[4] Systemic mastocytosis was first reported by scientists in 1936.[5]

[edit] Symptoms
When too many mast cells exist in a person's body and undergo degranulation, the additional chemicals can cause a number of symptoms which can vary over time and can range in intensity from mild to severe. Because mast cells play a role in allergic reactions, the symptoms of mastocytosis often are similar to the symptoms of an allergic reaction. They may include, but are not limited to:[6]

By taking a biopsy from a different organ, such as the bone marrow, the doctor can diagnose systemic mastocytosis. Using special techniques on a bone marrow sample, the doctor looks for an increase in mast cells. Another sign of this disorder is high levels of certain mast-cell chemicals and proteins in a person's blood and sometimes in the urine.

[edit] Epidemiology
No one is sure how many people have either type of mastocytosis, but mastocytosis generally has been considered to be an "orphan disease" (orphan diseases affect 200,000 or fewer people in the United States). Mastocytosis, however, often may be misdiagnosed, especially because it typically occurs secondary to another condition, and thus may occur more frequently than assumed.

[edit] Treatment
There is currently no cure for mastocytosis. However, there are a number of medicines to help treat the symptoms of mastocytosis:

Antihistamines block receptors targeted by histamine released from mast cells. Both H1 and H2 blockers may be helpful.
Leukotriene antagonists block receptors targeted by leukotrienes released from mast cells.
Mast cell stabilizers help prevent mast cells from releasing their chemical contents. Cromolyn Sodium Oral Solution (Gastrocrom / Cromoglicate) is the only medicine specifically approved by the U.S. FDA for the treatment of mastocytosis. Ketotifen is available in Canada and Europe, but is only available in the U.S. as eye drops (Zaditor).
Proton pump inhibitors help reduce production of gastric acid, which is often increased in patients with mastocytosis. Excess gastric acid can harm the stomach, esophagus, and small intestine.
Epinephrine constricts blood vessels and opens airways to maintain adequate circulation and ventilation when excessive mast cell degranulation has caused anaphylaxis.
Albuterol and other beta-2 agonists open airways that can constrict in the presence of histamine.
Corticosteroids can be used topically, inhaled, or systemically to reduce inflammation associated with mastocytosis.
Antidepressants are an important and often overlooked tool in the treatment of mastocytosis. The stress and physical discomfort of any chronic disease may increase the likelihood of a patient developing depression. Depression and other neurological symptoms have been noted in mastocytosis.[7] Some antidepressants such as doxepin are themselves potent antihistamines and can help relieve physical as well as cognitive symptoms.
Dihydropyridines are calcium channel blockers that are sometimes used to treat high blood pressure. At least one clinical study suggested that Nifedipine, one of the dihydropyridines, may reduce mast cell degranulation in patients that exhibit urticaria pigmentosa. A 1984 study by Fairly et al. included a patient with symptomatic urticaria pigmentosa who responded to nifedipine at dose of 10 mg po tid.[8] However, Nifetipine has never been approved by the FDA for treatment of mastocytosis.
In rare cases in which mastocytosis is cancerous or associated with a blood disorder, the patient may have to use steroids and/or chemotherapy. The novel agent imatinib (Glivec or Gleevec) has been found to be effective in certain types of mastocytosis.[9]

There are clinical trials currently underway testing stem cell transplants as a form of treatment.

There are support groups for persons suffering from mastocytosis. Involvement can be emotionally therapeutic for some patients.

[edit] Research
National Institute of Allergy and Infectious Diseases (NIAID) scientists have been studying and treating patients with mastocytosis for several years at the National Institutes of Health (NIH) Clinical Center.

Some of the most important research advances for this rare disorder include improved diagnosis of mast cell disease and identification of growth factors and genetic mechanisms responsible for increased mast cell production. Researchers are currently evaluating approaches to improve ways to treat mastocytosis.

Scientists also are focusing on identifying disease-associated mutations (changes in genes). NIH scientists have identified some mutations, which may help researchers understand the causes of mastocytosis, improve diagnosis, and develop better treatments.

Thanks a lot for your replies and all the wonderful information. Let's see what the specialist says on the 26th of July when I must see him. Some things make sense to me and others not so much. As usual.

Hi. I went to a neurologist who is very reputated and runs a sleep disorders clinic. I showed my old sleep study and he was very interested. He started to find many abnormalities that they hadn't noticed at the public hospital where I took the sleep study.

Anyway, the guy got like very interested and started asking lots of questions about my whole condition. He didn't know much about CFS but still said, let's see, you never know, you have terrible symptoms and signs and tests showing many things wrong.

Anyway... he got to a point where he said that I might have MASTOCYTOSIS. He told me to go to some skin & mastocytosis specialist first and then we'd see step by step.

So, I came home and googled for Mastocytosis. And in fact it the symptoms match too in many ways, sounds like CFS and the hypersensitivity I have to everything which is not full MCS, mostly my untreatable respiratory tract mess and so on.

So, given that apparently having Mast Cell disease is also (as usual) common in CFS, and given that the tests for Mastocytosis are terrible (biopsies), I'd like to ask if someone has gone this route before and got tested and so on.

Since this orignial thread was started quite a time ago now... I did find out some new things ... there was a study done on one of the types of POTS.. I think it was the hyperadrenaline kind (forgot exactly what its called).. and they found on testing in this study, that the study partipates who had POTS and that.. actually all also had a mast cell disorder going on.
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Here's a bit more on POTS and mast cell issues.

"Mast-cell activation disorders may play a role in the development of POTS in some individuals. Some patients with orthostatic intolerance suffer from episodes of flushing, palpitations, shortness of breath, chest discomfort, headache, lightheadedness, hypotension or hypertension and occasionally syncope (Jacob & Biaggioni, 1999). Exercise may trigger an attack (Shibao, Arzubiaga, Roberts, Raj, Black, Harris & Biaggioni, 2005). Patients may complain of increased fatigue, sleepiness, increased urination and/or diarrhea after an attack (Jacob & Biaggioni, 1999). Symptoms of orthostatic intolerance often worsen after an episode. An increase in urinary methylhistamine, a marker of mast-cell activation, can be found in these patients.

Mast-cell activation results in the release of the vasodilator histamine, which may contribute to symptoms of POTS. Other mast cell mediators, such as plasma prostaglandin 2, may contribute to symptoms as well. Urinary histamine is often measured in the evaluation of flushing, but it is less specific than methylhistamine and not useful in the diagnosis of mast-cell activation (Shibao et al., 2005). Patients should be instructed to collect urine for a 4-hour period immediately after a severe spontaneous flushing episode. Urinary methylhistamine is usually normal between episodes in patients with mast-cell activation disorders, although the patients may experience chronic fatigue and orthostatic intolerance between episodes, which can lead to a disabling condition (Shibao et al., 2005).

Beta blockers should be used with caution, if at all, in those with mast-cell activation disorders (Shibao et al., 2005). Beta blockers may trigger mast-cell activation. "

Thanks alot for this very interesting and informative thread (always wondered apart from everything else what my Osteoporosis had to do with things). Tania @5 re sleep - exactly what is happening. Mast cell disorders certainly seem to explain so much.

A friend was recently dx'd with Mastocytosis. Previously she had been dx'd with MS. Apparently one of the best MDs for this is a Dr. Cassellas (sp?) out of Brigham & Womens in Boston. There are a lot of similarities including POTS. My friend has POTS pretty badly.

I've never heard of Mastocytosis before but after reading a number of documents and patient blogs my symptom profile actually fits this diagnosis as well as or better than ME/CFS. Unfortunately the possibility of a correct diagnosis of Mastocytosis looks to be even more problematic than for those lumped together under the CFS label.

This is a long but well worth reading paper prepared by the Mastocytosis Society Canada with the apparent intention of educating the medical profession on this group of diseases, misdiagnosis and issues such as gender bias and includes individuals' stories of long searches for a diagnosis which are all too familiar.

One patient who had previously undergone a hysterectomy was told her symptoms were due to "mourning for your uterus" which would be hilarious if not for the fact that mastocytosis can be fatal in certain circumstances.

I am very intrigued by my "discovery" of mastyocytosis as a possibility. It could really account for a lot, my extreme sensitivities and headaches food senstivities unpredictability of it all, sometimes breatheing issues or dysphagia, but its all been sublicinical, very frustrating. It ties in to CFS sx a lot. even the PEM.

I am a bit reluctant to ask doc for test to confirm it, i think histamine serum level and tryptase are a couple non-invasive ones, but in case they were negative he would think it was more neurotic worrying or might think its conclusive when I dont think it necessarily would be from what I read.

I don't quite understand what the difference is between allergies, asthma, autoimmune issues and other stuff and masto, because I would think overlap. oh also have ostepenia. I do get different skin issues but doesnt seem like classic masto dertmatitis pix, not brown.
Has anyone had luck with noninvasive testing on getting a diagnosis?